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Nelly Burnichon
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Journal Articles

In silico and Functional Studies for Classification of EPAS1/HIF2A Genetic Variants Identified in Patients with Erythrocytosis

Valéna Karaghiannis, Darko Maric, Céline Garrec, Nada Maaziz, Alexandre Buffet, Vincent Antunes, Amandine le Roy, Fabrice Airaud, Bernard Aral, Loic Schmitt, Sébastien Corbineau, Lamisse Mansour-Hendili, Valentine Lesieur, Antoine Rimbert, Fabien Laporte, Marine Delamare, Stephane Bezieau, Bruno Cassinat, Frédéric Galactéros, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon, Holger Cario, Richard van Wijk, Celeste Bento, Anaise Blouet, Juliette Bouteloup, Françoise Boyer perrard, Aisha Aiko Bruce, Emilie Cayssials, Nicole Casadevall, Brieuc Cherel, Marielaure Couec, Louis Drevon, Cecile Dumesnil, Thierry Lamy De La Chapelle, Marion Gambart, Loic Garcon, Brigitte Granel, Pierre Hirsch, Agnès Lahary, Amira Mejri, Sandrine Meunier, Franck E. Nicolini, Emmanuel Raffoux, Dana Ranta, Nicolas Schleinitz, Jean Baptiste Valentin, Mathieu Wemeau, Francois Girodon, David Hoogewijs, Betty Gardie, Olivier Hermine
Journal: Blood
Blood (2022) 140 (Supplement 1): 8157–8158.
https://doi.org/10.1182/blood-2022-163123
Published: 2022
Journal Articles

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J. L. Knight, Sophie Gad, Sophie Couvé, Franck Chesnel, Mathilde Pacault, Pierre Lindenbaum, Sylvie Job, Solenne Dumont, Thomas Besnard, Marine Cornec, Helene Dreau, Melissa Pentony, Erika Kvikstad, Sophie Deveaux, Nelly Burnichon, Sophie Ferlicot, Mathias Vilaine, Jean-Michaël Mazzella, Fabrice Airaud, Céline Garrec, Laurence Heidet, Sabine Irtan, Elpis Mantadakis, Karim Bouchireb, Klaus-Michael Debatin, Richard Redon, Stéphane Bezieau, Brigitte Bressac-de Paillerets, Bin Tean Teh, François Girodon, Maria-Luigia Randi, Maria Caterina Putti, Vincent Bours, Richard Van Wijk, Joachim R. Göthert, Antonis Kattamis, Nicolas Janin, Celeste Bento, Jenny C. Taylor, Yannick Arlot-Bonnemains, Stéphane Richard, Anne-Paule Gimenez-Roqueplo, Holger Cario, Betty Gardie
Journal: Blood
Blood (2018) 132 (5): 469–483.
https://doi.org/10.1182/blood-2018-03-838235
Published: 2018
Includes: Supplemental data